Canonical Allele Identifier: CA1072525509

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414469-G-GCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA
• gnomAD v4: 5-1414469-G-GCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCC , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCC	GRCh38
NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCC , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCC	GRCh37
NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCC	NCBI36
NG_015885.1:g.35959_35960insTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAG MANE Select	ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCT...
ENST00000270349.11:c.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAG	ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCT...
NM_001044.4:c.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAG	NP_001035.1:n.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGC...
NM_001044.5:c.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAG MANE Select	NP_001035.1:n.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGC...